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Updated: May 24, 2025

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在CTNND1白发牙综合征中发现了新的尿生殖系统发现

Lily Loughman1, Naeem Samnakay2,3,4, Geoffrey C Lam2

  • 1Genetic Health Western Australia, Subiaco, Australia.

American journal of medical genetics. Part A
|March 3, 2025
PubMed
概括

血牙综合征 (BCD综合征) 是一种遗传性疾病,可以出现新的泌尿器官异常. 该案例研究确定了CTNND1变体,并建议扩大BCD综合征患者的查.

关键词:
在 BCDS 中, BCDS 是CTNND1 的意思是双角子宫的子宫是一个双角子宫.这是一种blepharocheilodontic.双重脏 双重脏尿道中的尿素是的.

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Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
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